Wrinkly skin and bone loss are typical features associated with ageing. In some monogenetic diseases, these changes occur prematurely resulting in a progeroid appearance of affected individuals. As a clinical feature wrinkly skin or cutis laxa is used as a common denominator of several overlapping syndromal disorders including autosomal dominant cutis laxa (ADCL; MIM 123700), autosomal recessive cutis laxa type I (ARCL1; MIM 219100), autosomal recessive cutis laxa type II (ARCL2; MIM 219200, also called wrinkly skin syndrome (WSS; MIM 278250)), de Barsy syndrome (DBS; MIM 219150), and gerodermia osteodysplastica (GO, MIM 231070). Diagnosis is often difficult in these conditions due to a broad clinical overlap.